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10q22.3-q23.31 Microdeletion
Full Description: 10q22.3-q23.31 Microdeletion
Chromosome: 10
Location: q22.3-q23.31
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: There are currently no available OMIM references.
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12q14.1-q15 Microdeletion
Full Description: 12q14.1-q15 Microdeletion
Chromosome: 12
Location: q14.3
Known Genes:
LEMD3, GRIP1
OMIM Numbers: There are currently no available OMIM references.
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12q24.21-q24.23 Microduplication
Full Description: 12q24.21-q24.23 Microduplication
Chromosome: 12
Location: q24.21-q24.33
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: There are currently no available OMIM references.
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14q22-q23 Microdeletion
Full Description: 14q22-q23 Microdeletion
Chromosome: 14
Location: q22-q23
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 600037
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15q24.1-q24.3 Microdeletion
Full Description: 15q24.1-q24.3 Microdeletion
Chromosome: 15
Location: q24.1-q24.3
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: There are currently no available OMIM references.
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16p11.2-p12.2 Microdeletion/ Microduplication
Full Description: 16p11.2-p12.2 Microdeletion/ Microduplication
Chromosome: 16
Location: p11.2-p12.2
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: There are currently no available OMIM references.
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16p13.1 Microdeletion/Microduplication predisposing to autism and/or mental...
Full Description: 16p13.1 Microdeletion/Microduplication predisposing to autism and/or mental retardation
Chromosome: 16
Location: p13.1
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: There are currently no available OMIM references.
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16p13.3 Microdeletion/Severe Rubinstein-Taybi
Full Description: 16p13.3 Microdeletion/Severe Rubinstein-Taybi
Chromosome: 16
Location: p13.3
Known Genes:
CREBBP, DNASE1
OMIM Numbers: 610543
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17p11.2 Duplication Syndrome
Full Description: 17p11.2 Duplication Syndrome
Chromosome: 17
Location: p11.2
Known Genes:
RAI1
OMIM Numbers: 182290
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17q21.3 Microdeletion
Full Description: 17q21.3 Microdeletion
Chromosome: 17
Location: q21.3
Known Genes:
MAPT
OMIM Numbers: 610443
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1q21.1 Microdeletion with susceptibility for thrombocytopenia-absent radius...
Full Description: 1q21.1 Microdeletion with susceptibility for thrombocytopenia-absent radius (TAR)
Chromosome: 1
Location: q21.1
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: There are currently no available OMIM references.
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1q41-q42 Microdeletion/Fryns
Full Description: 1q41-q42 Microdeletion/Fryns
Chromosome: 1
Location: q41
Known Genes:
DISP1
OMIM Numbers: 229850
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22q11.2 Duplication
Full Description: 22q11.2 Duplication
Chromosome: 22
Location: q11.2
Known Genes:
TBX1
OMIM Numbers: 608363
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22q13.3 Microdeletion
Full Description: 22q13.3 Microdeletion
Chromosome: 22
Location: q13.3
Known Genes:
ARSA, SHANK3
OMIM Numbers: 606232
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2p15-p16.1 Microdeletion
Full Description: 2p15-p16.1 Microdeletion
Chromosome: 2
Location: p15-p16.1
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: There are currently no available OMIM references.
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2q32.2-q33 Microdeletion
Full Description: 2q32.2-q33 Microdeletion
Chromosome: 2
Location: q33.1
Known Genes:
SATB2
OMIM Numbers: 119540
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3q29 Microdeletion
Full Description: 3q29 Microdeletion
Chromosome: 3
Location: q29
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 609425
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5q Syndrome/ 5q Deletion Syndrome
Full Description: 5q Syndrome/ 5q Deletion Syndrome
Chromosome: 5
Location: q33.1
Known Genes:
MEGF1, G3BP
OMIM Numbers: 153550
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6p25.3 Microdeletion
Full Description: 6p25.3 Microdeletion
Chromosome: 6
Location: p25.3
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 220210
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7q11.23 Duplication
Full Description: 7q11.23 Duplication
Chromosome: 7
Location: q11.23
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 609757
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8p23.1 Microdeletion/Microduplication
Full Description: 8p23.1 Microdeletion/Microduplication
Chromosome: 8
Location: p23.1
Known Genes:
GATA4
OMIM Numbers: 600576
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9q22.32-q22.33 Microdeletion
Full Description: 9q22.32-q22.33 Microdeletion
Chromosome: 9
Location: q22.33
Known Genes:
TGFBR1
OMIM Numbers: There are currently no available OMIM references.
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9q34 Microdeletion
Full Description: 9q34 Microdeletion
Chromosome: 9
Location: q34.3
Known Genes:
EHMT1
OMIM Numbers: 610253
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Adrenal hypoplasia congenita/Dosage sensitive sex reversal
Full Description: Adrenal hypoplasia congenita/Dosage sensitive sex reversal
Chromosome: X
Location: p21.2
Known Genes:
NR0B1, DAX1
OMIM Numbers: 300200, 300018
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Adult-onset autosomal dominant leukodystrophy (ADLD) * (FISH)
Full Description: Adult-onset autosomal dominant leukodystrophy (ADLD) * (FISH)
Chromosome: 5
Location: q23.2
Known Genes:
LMNB1
OMIM Numbers: 169500
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Alagille
Full Description: Alagille
Chromosome: 20
Location: p12.2
Known Genes:
JAG1
OMIM Numbers: 118450
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Albright hereditary osteodystrophy-like syndrome/Brachydactyly-MR
Full Description: Albright hereditary osteodystrophy-like syndrome/Brachydactyly-MR
Chromosome: 2
Location: q37.3
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 600430
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Alpha thalassemia mental retardation (OS)
Full Description: Alpha thalassemia mental retardation (OS)
Chromosome: 16
Location: p13.3
Known Genes:
HBA1, HBA2
OMIM Numbers: 141750
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Alzheimer disease, early onset with cerebral amyloid angiopathy (FISH)
Full Description: Alzheimer disease, early onset with cerebral amyloid angiopathy (FISH)
Chromosome: 21
Location: q21.3
Known Genes:
APP
OMIM Numbers: 104300
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AMME Complex/ Alport Syndrome
Full Description: AMME Complex/ Alport Syndrome
Chromosome: X
Location: q22.3
Known Genes:
COL4A5, COL4A6
OMIM Numbers: 300195
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Angleman Syndrome (AS) (duplications or deletions)
Full Description: Angleman Syndrome (AS) (duplications or deletions)
Chromosome: 15
Location: q11.2-12
Known Genes:
UBE3A, D15S10
OMIM Numbers: 105830
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Aniridia II
Full Description: Aniridia II
Chromosome: 11
Location: p13
Known Genes:
PAX6
OMIM Numbers: 106210
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Atrial septal defect (ASD) with atrioventricular conduction defects
Full Description: Atrial septal defect (ASD) with atrioventricular conduction defects
Chromosome: 5
Location: q35.1
Known Genes:
NKX2-5
OMIM Numbers: 108900
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Autistic Features
Full Description: Autistic Features
Chromosome: 15
Location: q11.2-q13
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 209850
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Azoospermia / Oligozoospermia
Full Description: Azoospermia / Oligozoospermia
Chromosome: Y
Location: q11.223
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 415000
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Bartter 1
Full Description: Bartter 1
Chromosome: 15
Location: q21.1
Known Genes:
SLC12A1
OMIM Numbers: 601678
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Bartter 2
Full Description: Bartter 2
Chromosome: 11
Location: q24.3
Known Genes:
KCNJ1
OMIM Numbers: 241200
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Bartter 3 (classic)
Full Description: Bartter 3 (classic)
Chromosome: 1
Location: p36.13
Known Genes:
CLCNKB
OMIM Numbers: 607364
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Bartter 4 (infantile with sensorineural deafness)
Full Description: Bartter 4 (infantile with sensorineural deafness)
Chromosome: 1
Location: p32.3,p36.13
Known Genes:
BSND, CLCNKA
OMIM Numbers: 602522
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Bartter with autosomal dominant hypocalcemia
Full Description: Bartter with autosomal dominant hypocalcemia
Chromosome: 3
Location: q21.1
Known Genes:
CASR
OMIM Numbers: 601199
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Basal cell nevus Synrome / BCNS
Full Description: Basal cell nevus Synrome / BCNS
Chromosome: 9
Location: q22.32
Known Genes:
PTCH
OMIM Numbers: 109400
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Beckwith-Wiedemann Syndrome (BWS)
Full Description: Beckwith-Wiedemann Syndrome (BWS)
Chromosome: 11
Location: p15.5
Known Genes:
IGF2, CDKN1C
OMIM Numbers: 130650
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Bilateral frontoparietal polymicrogyria
Full Description: Bilateral frontoparietal polymicrogyria
Chromosome: 16
Location: q13
Known Genes:
GPR56
OMIM Numbers: 606854
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Blepharophimosis, ptosis, epicanthus inversus (BPES)
Full Description: Blepharophimosis, ptosis, epicanthus inversus (BPES)
Chromosome: 3
Location: q22.3
Known Genes:
FOXL2
OMIM Numbers: 110100
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Brachydactyl-Mental Retardation Syndrome/ BDMR/ Albright Hereditart...
Full Description: Brachydactyl-Mental Retardation Syndrome/ BDMR/ Albright Hereditart Osteodystrophy-like syndrome/ AHO3
Chromosome: 2
Location: q37.3
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 600430
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Branchio-Oto-Renal (BOR)/Melnick-Fraser/ Oto-Facio-Cervical (OFC)
Full Description: Branchio-Oto-Renal (BOR)/Melnick-Fraser/ Oto-Facio-Cervical (OFC)
Chromosome: 8
Location: q13.3
Known Genes:
EYA1
OMIM Numbers: 113650, 166780
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BRCA2 Deletion - frequently deleted in prostrate/ breast cancer
Full Description: BRCA2 Deletion - frequently deleted in prostrate/ breast cancer
Chromosome: 13
Location: q13.1
Known Genes:
BRCA2
OMIM Numbers: 600185
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Bruton agammaglobulinemia tyrosine
Full Description: Bruton agammaglobulinemia tyrosine
Chromosome: X
Location: q22.1
Known Genes:
BTK
OMIM Numbers: 300300
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Burton Agammaglobulinemia Tyrosine Kinase (BTK) / Agammaglobulinemia Tyrosine...
Full Description: Burton Agammaglobulinemia Tyrosine Kinase (BTK) / Agammaglobulinemia Tyrosine Kinase (ATK) / B-Cell Progenitor Kinase (BPK)
Chromosome: X
Location: q22.1
Known Genes:
BTK
OMIM Numbers: 300300
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Buschke-Ollendorff Syndrome/ BOS/ Dermatoosteropoikilosis
Full Description: Buschke-Ollendorff Syndrome/ BOS/ Dermatoosteropoikilosis
Chromosome: 12
Location: q14
Known Genes:
LEMD3, MAN1
OMIM Numbers: 166700
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Campomelic dysplasia (CMPD)
Full Description: Campomelic dysplasia (CMPD)
Chromosome: 17
Location: q24.3
Known Genes:
SOX9
OMIM Numbers: 114290
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Cat-eye
Full Description: Cat-eye
Chromosome: 22
Location: q11.1
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 115470
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CDKN2B/ CDKN2A - frequently mutated and deleted in a wide variety of tumors
Full Description: CDKN2B/ CDKN2A - frequently mutated and deleted in a wide variety of tumors
Chromosome: 9
Location: p21.3
Known Genes:
CDKN2B, CDKN2A
OMIM Numbers: 600431, 600160
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Cerebellar Hypoplasia, VLDLR-Associated/ VLDRLR CH / Dysequilibrium Syndrome/...
Full Description: Cerebellar Hypoplasia, VLDLR-Associated/ VLDRLR CH / Dysequilibrium Syndrome/ DES
Chromosome: 9
Location: p24
Known Genes:
VLDLR
OMIM Numbers: 224050
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Charcot-Marie-Tooth disease type 1A (duplication)
Full Description: Charcot-Marie-Tooth disease type 1A (duplication)
Chromosome: 17
Location: p12
Known Genes:
PMP22
OMIM Numbers: 118220
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CHARGE
Full Description: CHARGE
Chromosome: 8
Location: q12.2
Known Genes:
CHD7
OMIM Numbers: 214800
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Chromosome 22q13.3 Deletion Syndrome / Telomeric 22q13 Monosomy Syndrome
Full Description: Chromosome 22q13.3 Deletion Syndrome / Telomeric 22q13 Monosomy Syndrome
Chromosome: 22
Location: q13.3
Known Genes:
PSAP2, ACR
OMIM Numbers: 606232
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Chromsome 18q Deletion Syndome/ De Grouchy Syndrome
Full Description: Chromsome 18q Deletion Syndome/ De Grouchy Syndrome
Chromosome: 18
Location: q22.3-q23
Known Genes:
MBP
OMIM Numbers: 601808
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Cleidocranial dysplasia (CCD)
Full Description: Cleidocranial dysplasia (CCD)
Chromosome: 6
Location: p21.1
Known Genes:
RUNX2
OMIM Numbers: 119600
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Congenital adrenal hyperplasia (CAH)
Full Description: Congenital adrenal hyperplasia (CAH)
Chromosome: 6
Location: p21.32
Known Genes:
CYP21A2
OMIM Numbers: 201910
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Congenital diaphragmatic hernia (CDH)
Full Description: Congenital diaphragmatic hernia (CDH)
Chromosome: 15
Location: q26.1-q26.2
Known Genes:
NR2F2, CHD2
OMIM Numbers: 142340
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Congenital diaphragmatic hernia (CDH) 2
Full Description: Congenital diaphragmatic hernia (CDH) 2
Chromosome: 8
Location: p23.1
Known Genes:
GATA4
OMIM Numbers: 222400
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Corneila de Lange Syndrome / CDL
Full Description: Corneila de Lange Syndrome / CDL
Chromosome: 5
Location: p13.2
Known Genes:
NIPBL
OMIM Numbers: 122470
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Cowden
Full Description: Cowden
Chromosome: 10
Location: q23.31-q23.2
Known Genes:
PTEN, BMPR1A
OMIM Numbers: 158350
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Cri-du-Chat
Full Description: Cri-du-Chat
Chromosome: 5
Location: p15.2-p13.3
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 123450
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Currarino
Full Description: Currarino
Chromosome: 7
Location: q36.3
Known Genes:
HLXB9
OMIM Numbers: 176450
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Cyclin-Dependent Kinase Inhibitor 2B (CDKN2B)/ Cyclin-Dependent Kinase...
Full Description: Cyclin-Dependent Kinase Inhibitor 2B (CDKN2B)/ Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A)
Chromosome: 9
Location: p21.3
Known Genes:
CDKN2A, CDKNB
OMIM Numbers: 600431, 600160
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Dandy-Walker malformation (DWM)
Full Description: Dandy-Walker malformation (DWM)
Chromosome: 3
Location: q24
Known Genes:
ZIC1, ZIC4
OMIM Numbers: 220200
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Dent Disease 1 / Hypercalciuria Nephrolithiasis X-Linked
Full Description: Dent Disease 1 / Hypercalciuria Nephrolithiasis X-Linked
Chromosome: X
Location: p11.23-p11.22
Known Genes:
CLCN5
OMIM Numbers: 300009
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Diffuse Leiomyomatosis with Alport Syndrome (DL-ATS) / Leiomyomatosis
Full Description: Diffuse Leiomyomatosis with Alport Syndrome (DL-ATS) / Leiomyomatosis
Chromosome: X
Location: q22.3
Known Genes:
COL4A6, COL4A5
OMIM Numbers: 308940
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DiGeorge / Velocardiofacial (VCF) / CATCH-22
Full Description: DiGeorge / Velocardiofacial (VCF) / CATCH-22
Chromosome: 22
Location: q11.2
Known Genes:
TBX1, HIRA
OMIM Numbers: 188400
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DiGeorge 2
Full Description: DiGeorge 2
Chromosome: 10
Location: p14
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 601362
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DiGeorge/Velocardiofacial (VCF)
Full Description: DiGeorge/Velocardiofacial (VCF)
Chromosome: 22
Location: q11.21
Known Genes:
HIRA, TBX1
OMIM Numbers: 188400
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Dosage sensitive sex reversal (duplication)
Full Description: Dosage sensitive sex reversal (duplication)
Chromosome: X
Location: p21.2
Known Genes:
NR0B1, DAX1
OMIM Numbers: 300018
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Down (Downs) Syndrome
Full Description: Down (Downs) Syndrome
Chromosome: 21
Location: q22
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 190685
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Down (Downs) syndrome critical region (DSCR) *
Full Description: Down (Downs) syndrome critical region (DSCR) *
Chromosome: 21
Location: q22.13
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 602917
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Duane Retraction Syndrome 1 / DURS1/ DRS/ DUS
Full Description: Duane Retraction Syndrome 1 / DURS1/ DRS/ DUS
Chromosome: 8
Location: q13.1
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 126800
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Duchenne Muscular Dystrophy (DMD)/ Berker Type Muscular Dystrophy (BMD)
Full Description: Duchenne Muscular Dystrophy (DMD)/ Berker Type Muscular Dystrophy (BMD)
Chromosome: X
Location: p21.2-p21.1
Known Genes:
DMD
OMIM Numbers: 310200, 300376
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Familial adenomatous polyposis (FAP) / Adenomatous Polyposis of the Colon (APC)...
Full Description: Familial adenomatous polyposis (FAP) / Adenomatous Polyposis of the Colon (APC) / Gardner Syndrome (GS)
Chromosome: 5
Location: q22.2
Known Genes:
APC
OMIM Numbers: 175100
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Feingold
Full Description: Feingold
Chromosome: 2
Location: p24.3
Known Genes:
MYCN
OMIM Numbers: 164280
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FG 5
Full Description: FG 5
Chromosome: X
Location: q22.3
Known Genes:
MID2
OMIM Numbers: 300581
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FMR1 Microdeletion
Full Description: FMR1 Microdeletion
Chromosome: X
Location: q27.3
Known Genes:
FMR1
OMIM Numbers: 300624
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Gitelman
Full Description: Gitelman
Chromosome: 16
Location: q13
Known Genes:
SLC12A3
OMIM Numbers: 263800
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Glycerol kinase deficiency
Full Description: Glycerol kinase deficiency
Chromosome: X
Location: p21.2
Known Genes:
GK
OMIM Numbers: 300474
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Glycerol Kinase Deficiency / Hyperglycerolemia
Full Description: Glycerol Kinase Deficiency / Hyperglycerolemia
Chromosome: X
Location: p21.2
Known Genes:
GK
OMIM Numbers: 307030
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Greig cephalopolysyndactyly
Full Description: Greig cephalopolysyndactyly
Chromosome: 7
Location: p14.1
Known Genes:
GLI3
OMIM Numbers: 175700
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Holoprosencephaly 1
Full Description: Holoprosencephaly 1
Chromosome: 21
Location: q22.3
Known Genes:
TMEM1
OMIM Numbers: 236100
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Holoprosencephaly 3
Full Description: Holoprosencephaly 3
Chromosome: 7
Location: q36.3
Known Genes:
SHH
OMIM Numbers: 142945
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Holoprosencephaly 5
Full Description: Holoprosencephaly 5
Chromosome: 13
Location: q32.3
Known Genes:
ZIC2
OMIM Numbers: 609637
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Holoprosencephaly 6
Full Description: Holoprosencephaly 6
Chromosome: 2
Location: q37.1-q37.3
Known Genes:
HPE6
OMIM Numbers: 605934
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Holoprosencephaly 8
Full Description: Holoprosencephaly 8
Chromosome: 14
Location: q13.1-q13.2
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 609408
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Holoprosencephaly and preaxial polydactyly *
Full Description: Holoprosencephaly and preaxial polydactyly *
Chromosome: 5
Location: q35.1
Known Genes:
FBXW11
OMIM Numbers: 605651
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Holt-Oram
Full Description: Holt-Oram
Chromosome: 12
Location: q24.1
Known Genes:
TBX5
OMIM Numbers: 142900
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Hypodontia, Autosomal Dominanat (HYD1)
Full Description: Hypodontia, Autosomal Dominanat (HYD1)
Chromosome: 14
Location: q12-q13
Known Genes:
PAX9
OMIM Numbers: 106600
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Hypoparathyroidism, sensorineural deafness, renal disease (HDR)
Full Description: Hypoparathyroidism, sensorineural deafness, renal disease (HDR)
Chromosome: 10
Location: p14
Known Genes:
GATA3
OMIM Numbers: 146255
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Hypotonia-Cyctinura Syndrome/ Homozygous 2p21 Delection Syndrome
Full Description: Hypotonia-Cyctinura Syndrome/ Homozygous 2p21 Delection Syndrome
Chromosome: 2
Location: p21
Known Genes:
SLC3A1, PREPL
OMIM Numbers: 606407
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Iris Hypoplasia / Rieger anomaly (RA) / Axenfeld anomaly (AA) / with Glaucoma...
Full Description: Iris Hypoplasia / Rieger anomaly (RA) / Axenfeld anomaly (AA) / with Glaucoma (duplication or deletion)
Chromosome: 6
Location: p25
Known Genes:
FOXC1
OMIM Numbers: 308500
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Jacobsen 11q terminal deletion disorder / 11q Deletion Syndrome / Partial 11q...
Full Description: Jacobsen 11q terminal deletion disorder / 11q Deletion Syndrome / Partial 11q Monosomy Syndrome
Chromosome: 11
Location: q24.3-q25
Known Genes:
Multiple genes associated with this syndrome
OMIM Numbers: 147791
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Joubert 3
Full Description: Joubert 3
Chromosome: 6
Location: q23.3
Known Genes:
AHI1
OMIM Numbers: 608629
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Joubert 4/ Nephronophthisis 1
Full Description: Joubert 4/ Nephronophthisis 1
Chromosome: 2
Location: q13
Known Genes:
NPHP1
OMIM Numbers: 609583, 256100
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Joubert 5
Full Description: Joubert 5
Chromosome: 12
Location: q21.32
Known Genes:
CEP290
OMIM Numbers: 610188
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Joubert Syndrome 4
Full Description: Joubert Syndrome 4
Chromosome: 2
Location: q13
Known Genes:
NPHP1
OMIM Numbers: 609583
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Kallmann's Syndrome 1 / KAL1
Full Description: Kallmann's Syndrome 1 / KAL1
Chromosome: X
Location: p22.31
Known Genes:
KAL1
OMIM Numbers: 308700
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Klinefelters, XXY
Full Description: Klinefelters, XXY
Chromosome:
Location: +X, +Y
Known Genes:
OMIM Numbers: There are currently no available OMIM references.
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Langer-Giedion
Full Description: Langer-Giedion
Chromosome: 8
Location: q23.3-q24.11
Known Genes:
EXT1, TRPS1
OMIM Numbers: 150230
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Leri-Weill dyschondrosteosis/Langer mesomelic dysplasia (OS)
Full Description: Leri-Weill dyschondrosteosis/Langer mesomelic dysplasia (OS)
Chromosome: X
Location: pt22.33-p22.32
Known Genes:
SHOX, SHOXY
OMIM Numbers: 127300, 249700
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Li-Fraumeni 1
Full Description: Li-Fraumeni 1
Chromosome: 17
Location: p13.1
Known Genes:
TP53
OMIM Numbers: 151623
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Lissencephaly
Full Description: Lissencephaly
Chromosome: 17
Location: p13.3
Known Genes:
LIS1
OMIM Numbers: 607432
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Lissencephaly with cerebellar hypoplasia
Full Description: Lissencephaly with cerebellar hypoplasia
Chromosome: 7
Location: q22.1
Known Genes:
RELN
OMIM Numbers: 257320
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Loeys-Dietz (LDS)
Full Description: Loeys-Dietz (LDS)
Chromosome: 9
Location: q22.33
Known Genes:
TGFBR1
OMIM Numbers: 609192
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Loeys-Dietz (LDS)/Marfan 2 (MFS2)
Full Description: Loeys-Dietz (LDS)/Marfan 2 (MFS2)
Chromosome: 3
Location: p24.1
Known Genes:
TGFBR2
OMIM Numbers: 609192, 154705
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Lowe
Full Description: Lowe
Chromosome: X
Location: q25
Known Genes:
OCRL
OMIM Numbers: 309000
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Lymphoproliferative Syndrome, X-Linked / XLP / XLPD / LYP / Duncan Disease
Full Description: Lymphoproliferative Syndrome, X-Linked / XLP / XLPD / LYP / Duncan Disease
Chromosome: X
Location: q25
Known Genes:
SH2D1a
OMIM Numbers: 308240
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Madelung Deformity / Leri-Weill dyschond -rosteosis/ Idiopathic short stature /...
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